Why is CADASIL often misdiagnosed?

CADASIL is a hereditary systemic microangiopathy, meaning a disease of the very small blood vessels. The smooth muscle walls in the small blood vessels fill with a protein called granular osmiophilic material (GOM). The build up of GOM causes the small blood vessels to collapse or leak blood.

People with CADASIL may suffer from a myriad of symptoms at different phases of the disease. Symptoms are but not limited to: migraines, mood disturbances, limb tremors, cognitive decline, memory issues, recurrent small strokes, microhemorrhages, White Matter Disease, dementia.

CADASIL symptoms mimic other more common disorders. CADASIL should ALWAYS be ruled out first before another diagnosis is given. The definitive diagnosis is through genetic testing (blood, saliva or skin).

Migraines are common among the general population and can be familial migraines. Doctors don’t make the association with genetic disease.

Mood disturbances occurring in young or older adults do not automatically lead a doctor to think a genetic disease may be responsible.

Limb Tremors may be mistaken for Parkinson’s Disease or ALS.

Small strokes in CADASIL patients can look like an MS episode on an MRI.

White Matter Disease is associated with age. Is the degree of white matter changes appropriate for a person’s age?

Young dementia and Alzheimer’s can happen, but what is the root cause? Is the degree of white matter changes appropriate for a person’s age? Does the patient have any other symptoms that might point to CADASIL?

Is there a family history of neurological disorders?

Doctors need to not only take a detailed medical history of the patient but a detailed medical history of the family.